Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00502:Rgs6'

332470

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rgs6

Ensembl Gene

ENSMUSG00000021219

Gene Name

regulator of G-protein signaling 6

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.175) question?

Stock #

IGL00502

Quality Score

Status

Chromosome

Chromosomal Location

82663325-83208835 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 83098097 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 94 (I94F)

Ref Sequence

ENSEMBL: ENSMUSP00000144139 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000101234] [ENSMUST00000161801] [ENSMUST00000185665] [ENSMUST00000185674] [ENSMUST00000186081] [ENSMUST00000186309] [ENSMUST00000186323] [ENSMUST00000202210] [ENSMUST00000191311] [ENSMUST00000186458] [ENSMUST00000200861] [ENSMUST00000200911] [ENSMUST00000186848] [ENSMUST00000191107] [ENSMUST00000191352] [ENSMUST00000201271] [ENSMUST00000201861] [ENSMUST00000201602]

AlphaFold

Q9Z2H2

Predicted Effect

probably benign
Transcript: ENSMUST00000101234
AA Change: I94F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000098793
Gene: ENSMUSG00000021219
AA Change: I94F

Domain	Start	End	E-Value	Type
DEP	40	115	3.28e-24	SMART
G_gamma	255	319	2.23e-23	SMART
GGL	258	319	1.38e-27	SMART
RGS	336	451	2.05e-47	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000161801
AA Change: I94F

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000125256
Gene: ENSMUSG00000021219
AA Change: I94F

Domain	Start	End	E-Value	Type
DEP	40	115	3.28e-24	SMART
G_gamma	255	319	2.23e-23	SMART
GGL	258	319	1.38e-27	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000185665
AA Change: I94F

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000139566
Gene: ENSMUSG00000021219
AA Change: I94F

Domain	Start	End	E-Value	Type
DEP	40	115	1.5e-26	SMART
G_gamma	255	319	1e-27	SMART
GGL	258	319	8.7e-30	SMART
RGS	336	451	7.5e-50	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000185674
AA Change: I94F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000139940
Gene: ENSMUSG00000021219
AA Change: I94F

Domain	Start	End	E-Value	Type
DEP	40	115	1.5e-26	SMART
RGS	299	414	7.5e-50	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000186081
AA Change: I94F

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000140188
Gene: ENSMUSG00000021219
AA Change: I94F

Domain	Start	End	E-Value	Type
DEP	40	115	1.5e-26	SMART
RGS	299	414	7.5e-50	SMART
low complexity region	417	425	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000186309
AA Change: I94F

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000140701
Gene: ENSMUSG00000021219
AA Change: I94F

Domain	Start	End	E-Value	Type
DEP	40	115	1.5e-26	SMART
G_gamma	255	319	1e-27	SMART
GGL	258	319	8.7e-30	SMART
RGS	336	451	7.5e-50	SMART
low complexity region	494	499	N/A	INTRINSIC
low complexity region	511	523	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000186323
AA Change: I94F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000141079
Gene: ENSMUSG00000021219
AA Change: I94F

Domain	Start	End	E-Value	Type
DEP	40	115	1.5e-26	SMART
RGS	299	414	7.5e-50	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000202210
AA Change: I94F

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000143961
Gene: ENSMUSG00000021219
AA Change: I94F

Domain	Start	End	E-Value	Type
DEP	40	115	3.28e-24	SMART
G_gamma	255	319	2.23e-23	SMART
GGL	258	319	1.38e-27	SMART
RGS	336	451	2.05e-47	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000191311
AA Change: I94F

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000140723
Gene: ENSMUSG00000021219
AA Change: I94F

Domain	Start	End	E-Value	Type
DEP	40	115	1.5e-26	SMART
G_gamma	255	319	1e-27	SMART
GGL	258	319	8.7e-30	SMART
RGS	336	451	7.5e-50	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000186458
AA Change: I94F

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000139735
Gene: ENSMUSG00000021219
AA Change: I94F

Domain	Start	End	E-Value	Type
DEP	40	115	3.28e-24	SMART
G_gamma	255	319	2.23e-23	SMART
GGL	258	319	1.38e-27	SMART
RGS	336	451	2.05e-47	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000200861
AA Change: I94F

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000144118
Gene: ENSMUSG00000021219
AA Change: I94F

Domain	Start	End	E-Value	Type
DEP	40	109	3.2e-18	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000200911
AA Change: I94F

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000143801
Gene: ENSMUSG00000021219
AA Change: I94F

Domain	Start	End	E-Value	Type
DEP	40	115	3.28e-24	SMART
G_gamma	255	319	2.23e-23	SMART
GGL	258	319	1.38e-27	SMART
RGS	336	451	2.05e-47	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000186848
AA Change: I59F

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000141044
Gene: ENSMUSG00000021219
AA Change: I59F

Domain	Start	End	E-Value	Type
DEP	5	80	1.6e-26	SMART
G_gamma	220	284	1.1e-27	SMART
GGL	223	284	8.8e-30	SMART
RGS	301	416	7.6e-50	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000191107
AA Change: I94F

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000139725
Gene: ENSMUSG00000021219
AA Change: I94F

Domain	Start	End	E-Value	Type
DEP	40	115	1.5e-26	SMART
G_gamma	255	319	1e-27	SMART
GGL	258	319	8.7e-30	SMART
RGS	336	451	7.5e-50	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000191352
AA Change: I94F

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000139718
Gene: ENSMUSG00000021219
AA Change: I94F

Domain	Start	End	E-Value	Type
DEP	40	115	1.5e-26	SMART
G_gamma	255	319	1e-27	SMART
GGL	258	319	8.7e-30	SMART
RGS	336	451	7.5e-50	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000201271
AA Change: I94F

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000144139
Gene: ENSMUSG00000021219
AA Change: I94F

Domain	Start	End	E-Value	Type
DEP	40	115	1.6e-26	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000190964

Predicted Effect

probably benign
Transcript: ENSMUST00000201861

SMART Domains

Protein: ENSMUSP00000144395
Gene: ENSMUSG00000021219

Domain	Start	End	E-Value	Type
Pfam:DEP	43	88	5.2e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000201602

SMART Domains

Protein: ENSMUSP00000144044
Gene: ENSMUSG00000021219

Domain	Start	End	E-Value	Type
Pfam:DEP	43	73	1.1e-5	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a member of the RGS (regulator of G protein signaling) family of proteins, which are defined by the presence of a RGS domain that confers the GTPase-activating activity of these proteins toward certain G alpha subunits. This protein also belongs to a subfamily of RGS proteins characterized by the presence of DEP (Dishevelled, Egl-10, and Pleckstrin) and GGL (G-protein gamma like)domains, the latter a G beta 5-interacting domain. The RGS proteins negatively regulate G protein signaling, and may modulate neuronal, cardiovascular, lymphocytic activities, and cancer risk. Mice lacking this gene exhibit decreased heart rate. Alternative splicing results in multiple transcript variants, however, the full-length nature of some of these variants is not known. [provided by RefSeq, Sep 2015]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased heart rate and abnormal impulse conducting system conduction. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts20	A	T	15: 94,301,278 (GRCm39)	I82N	probably damaging	Het
Ampd2	A	T	3: 107,984,712 (GRCm39)	L422H	probably damaging	Het
Angptl2	T	A	2: 33,118,406 (GRCm39)	V60E	probably damaging	Het
Ano3	G	A	2: 110,601,395 (GRCm39)		probably benign	Het
Arhgap40	A	G	2: 158,373,078 (GRCm39)	D112G	probably benign	Het
Bcorl1	T	G	X: 47,494,919 (GRCm39)	V1730G	probably damaging	Het
Btrc	A	T	19: 45,515,704 (GRCm39)	E553V	probably damaging	Het
Cacna1b	A	T	2: 24,541,212 (GRCm39)	Y1323*	probably null	Het
Ccdc146	A	G	5: 21,506,420 (GRCm39)	C674R	possibly damaging	Het
Ccdc170	A	G	10: 4,496,836 (GRCm39)	D458G	probably damaging	Het
Cfap57	T	A	4: 118,438,198 (GRCm39)	M898L	probably benign	Het
Crybg1	C	T	10: 43,834,309 (GRCm39)	V1961I	probably damaging	Het
Dsp	T	C	13: 38,381,822 (GRCm39)	S2257P	probably damaging	Het
Dytn	A	G	1: 63,717,999 (GRCm39)	V12A	probably benign	Het
Foxk2	A	G	11: 121,187,925 (GRCm39)		probably benign	Het
Galnt2l	T	C	8: 125,054,837 (GRCm39)	M204T	probably damaging	Het
Gfi1b	G	A	2: 28,504,797 (GRCm39)	Q70*	probably null	Het
Gsdmc	T	C	15: 63,676,270 (GRCm39)	T58A	probably benign	Het
Hikeshi	G	A	7: 89,572,818 (GRCm39)	T26I	probably benign	Het
Mpdz	T	C	4: 81,287,960 (GRCm39)	D433G	probably damaging	Het
Ndufb5	T	A	3: 32,799,048 (GRCm39)	V55D	probably damaging	Het
Nostrin	T	C	2: 69,014,336 (GRCm39)	S431P	probably benign	Het
Pdcd1lg2	A	T	19: 29,423,462 (GRCm39)	T169S	possibly damaging	Het
Plekha7	A	T	7: 115,734,419 (GRCm39)	M1006K	probably damaging	Het
Rims2	A	T	15: 39,370,380 (GRCm39)	D938V	probably damaging	Het
Slc4a8	A	G	15: 100,705,319 (GRCm39)	T842A	possibly damaging	Het
Spata21	C	A	4: 140,838,675 (GRCm39)		probably null	Het
Stk32a	C	T	18: 43,443,510 (GRCm39)	T229I	possibly damaging	Het
Tent4b	C	T	8: 88,978,886 (GRCm39)	Q63*	probably null	Het
Trim33	C	T	3: 103,237,498 (GRCm39)	P185S	probably benign	Het
Tspoap1	A	G	11: 87,668,647 (GRCm39)		probably null	Het
Vcan	A	G	13: 89,840,438 (GRCm39)	V742A	probably benign	Het
Vrtn	A	T	12: 84,695,837 (GRCm39)	I196F	probably benign	Het
Wasf1	A	T	10: 40,796,293 (GRCm39)	I8F	probably damaging	Het
Ythdc2	A	G	18: 44,980,879 (GRCm39)	I491M	probably damaging	Het
Zfp292	T	C	4: 34,809,775 (GRCm39)	T1095A	possibly damaging	Het

Other mutations in Rgs6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02131:Rgs6	APN	12	83,116,269 (GRCm39)	missense	probably damaging	1.00
IGL02354:Rgs6	APN	12	82,665,393 (GRCm39)	intron	probably benign
IGL02361:Rgs6	APN	12	82,665,393 (GRCm39)	intron	probably benign
IGL02568:Rgs6	APN	12	83,117,376 (GRCm39)	missense	probably benign	0.25
IGL02598:Rgs6	APN	12	83,138,571 (GRCm39)	missense	probably benign	0.02
IGL03146:Rgs6	APN	12	83,099,312 (GRCm39)	missense	probably damaging	1.00
IGL03248:Rgs6	APN	12	83,099,324 (GRCm39)	splice site	probably benign
IGL03098:Rgs6	UTSW	12	83,032,150 (GRCm39)	missense	probably damaging	1.00
IGL03147:Rgs6	UTSW	12	83,138,620 (GRCm39)	missense	probably damaging	0.99
PIT4453001:Rgs6	UTSW	12	83,138,553 (GRCm39)	missense	probably damaging	1.00
R0270:Rgs6	UTSW	12	83,180,463 (GRCm39)	missense	probably damaging	1.00
R0390:Rgs6	UTSW	12	83,180,451 (GRCm39)	missense	probably damaging	1.00
R0540:Rgs6	UTSW	12	83,106,578 (GRCm39)	nonsense	probably null
R0630:Rgs6	UTSW	12	83,094,324 (GRCm39)	splice site	probably benign
R1479:Rgs6	UTSW	12	83,163,018 (GRCm39)	missense	probably damaging	1.00
R1533:Rgs6	UTSW	12	83,138,547 (GRCm39)	missense	probably benign	0.00
R1545:Rgs6	UTSW	12	83,162,951 (GRCm39)	missense	probably damaging	0.99
R2161:Rgs6	UTSW	12	83,138,578 (GRCm39)	missense	probably damaging	1.00
R2421:Rgs6	UTSW	12	83,163,057 (GRCm39)	missense	possibly damaging	0.93
R4089:Rgs6	UTSW	12	83,110,261 (GRCm39)	missense	probably damaging	1.00
R4573:Rgs6	UTSW	12	83,112,789 (GRCm39)	missense	probably damaging	1.00
R4821:Rgs6	UTSW	12	83,114,185 (GRCm39)	critical splice acceptor site	probably null
R6228:Rgs6	UTSW	12	83,112,738 (GRCm39)	missense	probably damaging	0.99
R7023:Rgs6	UTSW	12	83,138,878 (GRCm39)	intron	probably benign
R7585:Rgs6	UTSW	12	83,153,644 (GRCm39)	missense	probably damaging	1.00
R7610:Rgs6	UTSW	12	83,138,553 (GRCm39)	missense	probably damaging	1.00
R7798:Rgs6	UTSW	12	83,116,293 (GRCm39)	missense	probably benign	0.02
R8003:Rgs6	UTSW	12	83,032,144 (GRCm39)	missense	probably damaging	0.99
R8011:Rgs6	UTSW	12	83,163,066 (GRCm39)	missense	probably null	0.32
R8081:Rgs6	UTSW	12	83,094,347 (GRCm39)	nonsense	probably null
R8248:Rgs6	UTSW	12	83,184,478 (GRCm39)	intron	probably benign
R8267:Rgs6	UTSW	12	82,698,669 (GRCm39)	missense	probably benign
R8285:Rgs6	UTSW	12	83,162,949 (GRCm39)	missense	probably benign	0.14
R8932:Rgs6	UTSW	12	83,112,733 (GRCm39)	missense	probably damaging	1.00
R9398:Rgs6	UTSW	12	82,698,615 (GRCm39)	missense	probably benign	0.09
R9415:Rgs6	UTSW	12	83,184,166 (GRCm39)	missense	probably benign	0.06
RF008:Rgs6	UTSW	12	83,110,223 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-08-05